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A New Syndrome

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... Its prevalence is very rare, with approximately 200 cases reported in the literature (1). Initially described by Aubury in 1893, it was further studied by Hallermann in 1948 and Francois in 1950 (2,3). It is also known as Hallermann-Streiff Francois syndrome, Ullrich-Fremery-Dohna syndrome, and oculomandibulofacial syndrome (OMIM %234,100). ...
... Affected patients present with proportionate nanism, brachycephaly with frontal bossing, microphthalmia, congenital cataracts, a distinctive beak-shaped nose, hypotrichosis, cutaneous atrophy, and a host of dental abnormalities. Along with these classic positive signs, Francois reported other negative signs to differentiate this syndrome from other syndromes commonly misdiagnosed with HSS, including progeria and mandibulofacial dysostosis (3). There is no reported sex predilection, nor is its genetic basis elucidated; it is widely believed to be caused by dominant sporadic mutations (4). ...
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Hallermann–Streiff syndrome (HSS) is a disorder of rare occurrence affecting the craniofacial complex, with approximately 200 cases reported in the literature. Nonetheless, its distinctive facial features render it highly recognizable. We present the case of a 5-year-old girl with this syndrome and review the dental manifestations and management in this patient. In addition to the diagnostic facial features of brachycephaly with frontal bossing, beak-shaped nose, microphthalmia, and mandibular retrusion, multiple dental manifestations were noted, including the absence of the mandibular condyle, ghost teeth, and unusual pulpal calcifications in both the primary and the permanent teeth, which have not been previously reported in a case of HSS. There is no consensus on the suitable treatment plan to be given for HSS patients from a young age due to an underreporting of these cases in the literature. In this report, we discuss pediatric dental management options for a patient with HSS and share her perspective of the treatment.
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Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers implicated in human pathologies, with CHD6 being one of its least studied members. We discovered a de novo CHD6 missense mutation in a patient clinically presenting the rare Hallermann-Streiff syndrome (HSS). We used genome editing to generate isogenic iPSC lines and model HSS in relevant cell types. By combining genomics with functional in vivo and in vitro assays, we show that CHD6 binds a cohort of autophagy and stress response genes across cell types. The HSS mutation affects CHD6 protein folding and impairs its ability to recruit co-remodelers in response to DNA damage or autophagy stimulation. This leads to accumulation of DNA damage burden and senescence-like phenotypes. We therefore uncovered a molecular mechanism explaining HSS onset via chromatin control of autophagic flux and genotoxic stress surveillance.
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Case description and investigations A 4‐month‐old boy is taken to the Accident and Emergency Department with fever and respiratory distress. The parents report recurrent hospitalizations of the child since birth due to chest infections. The antenatal and family history is unremarkable. The boy weighs 5 kg, with length 52 cm, upper segment/lower segment ratio 1.6 and head circumference 38 cm. Examination reveals microcephaly with brachycephaly, prominent frontal eminences, bird‐like facies with a beak‐shaped nose (Fig. 1a), microphthalmia, corneal opacities, high arched cleft palate, absent teeth, micrognathia and low‐set ears. The digits and external genitalia are normal. Chest auscultation reveals decreased air entry and crepitations in the bilateral lungs. The results of cardiovascular, neurological and abdominal examinations are within normal limits and audiometry shows normal study. ... Dermatology consultation is requested because of hypotrichosis over the scalp, eyebrows and eyelashes, and vitiligo on the bilateral knees (Fig. 1a). The skin over the root of nose and chin is atrophic with visible underlying vessels. The palms, soles and nails are normal.
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Progeroid disorders make up a heterogeneous group of very rare hereditary diseases characterized by clinical signs that often mimic physiological aging in a premature manner. Apart from Hutchinson‐Gilford progeria syndrome, one of the best‐investigated progeroid disorders, a wide spectrum of other premature aging phenotypes exist, which differ significantly in their clinical presentation and molecular pathogenesis. Next‐generation sequencing (NGS)‐based approaches have made it feasible to determine the molecular diagnosis in the early stages of a disease. Nevertheless, a broad clinical knowledge on these disorders and their associated symptoms is still fundamental for a comprehensive patient management and for the interpretation of variants of unknown significance from NGS data sets. This review provides a detailed overview on characteristic clinical features and underlying molecular genetics of well‐known as well as only recently identified premature aging disorders and also highlights novel findings towards future therapeutic options.
Article
Hallermann-Streiff syndrome (HSS) is a rare congenital disorder that mainly affects head and face development. We described the different patterns of the disease throughout the whole growth period and provided innovative treatment steps. Indeed, early genioplasty and dental implantation before growth completion were performed. These steps allowed to improve facial growth and to provide orthodontic anchorage, respectively. Complementary orthognathic surgery achieved satisfactory occlusion and refined aesthetics. We believe such an approach could be considered as a relevant treatment modality to complete multidisciplinary care in patients with HSS.
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PurposeHallermann-Streiff-Francois syndrome (HSS) is a rare genetic disorder characterised by ocular and craniofacial anomalies. The purpose of this report is to highlight the ophthalmological features in four such patients and outcomes of cataract surgery.Patients and methodsRetrospective review of medical records of patients with cataract and/or microcornea due to HSS was done. Presenting features, ocular findings, ocular motility and visual outcomes were noted.ResultsWe identified four children with microcornea/cataract who had associated clinical features suggestive of HSS. Mean age at presentation was 25.5±27.8 months. Three children presented with poor vision in both eyes and one with strabismus. All patients had a microcornea and microphthalmos. Three patients had a membranous cataract. Horizontal corneal diameter ranged from 5.5 to 10.5 mm and axial length ranged from 12 to 18 mm. Three patients had associated strabismus. Three patients underwent lens extraction and two underwent strabismus surgery. Best corrected visual acuity (BCVA) improved from fixing, following light to a median post-operative BCVA of 20/380. One eye developed retinal detachment.Conclusion Children with HSS present with membranous cataracts, microcornea and microphthalmos and present surgical challenges. Though the patients were mostly left aphakic, all showed moderate visual improvement.Eye advance online publication, 29 July 2016; doi:10.1038/eye.2016.161.
Chapter
The clinical signs and the mode of inheritance of hypotrichoses, alopecias as well as dystrichoses in genetically determined syndromes other than genodermatoses are described. The term “hypotrichosis” in this study designates the results of quantitatively deficient hair anlage, while the term “alopecia” indicates the loss of previously existent hair. “Dystrichosis” signifies genetically determined alterations of the form of hairs. The clinical pictures, as well as the mode of inheritance in various syndromes other than genodermatoses are briefly described or demonstrated in tables.
Chapter
Campbell was the first to describe this rare condition in 1826 [1]. To date, some 375 cases have been reported [2].
Article
Hallermann-Streiff syndrome (HSS) is a rare congenital abnormality affecting mostly the head and face area. Craniofacial deformities, which are present in 98-99% of cases, are the principal abnormalities detected. We focus here on a particular subset of these deformities: atrophy of the skin of the centre of the face and nose. Two patients diagnosed with HSS were treated in our department. Both patients underwent nasal lipofilling to treat the atrophy of the nasal skin, as described by Nguyen et al. In both cases, a satisfactory improvement in nasal skin colour and texture was observed. A functional gain was also reported by the parents and observed during follow-up consultations. Lipofilling thus appears to be an excellent option for treating craniofacial deformities in children. Copyright © 2015 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.
Article
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Hallermann-Streiff syndrome is a very rare congenital disorder, which is primarily characterized by the head and face abnormalities. Approximately 180 cases have been reported worldwide, including 8 cases in Korea since it was first described by Hallermann in 1893. Patients exhibit a bird-like face, hypotrichosis, atrophy of skin, dental abnormalities, proportionate nanism, and various ophthalmic disorders, including congenital cataracts and bilateral micropthalmia. As a result of many life-threatening complications, such as respiratory and cardiac difficulties, many patients die during infancy. We report here two cases of HSS diagnosed immediately after birth with literature reviews. They showed two additional characteristics, including chubby cheeks and antenatal ultrasonographic findings, which have not been mentioned in previous reports.
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Hallermann-Streiff syndrome (HSS) is a rare disorder characterized by dyscephalia, with facial and dental abnormalities. We report a 12-year-old female child who presented with abnormal facial features, dental abnormalities and sparse scalp hair.
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Nach kurzer Literaturübersicht wird über einen an der Augenklinik des Bereiches Medizin der Universität Rostock beobachteten Fall von François-Syndrom berichtet. Der derzeitige Status wird an Hand von 4 Bildern dargestellt.
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Hallermann-Streiff syndrome is a rare disease. Approximately 150 cases have been reported, including 6 cases in Korea. The authors experienced a case of Hallermann-Streiff syndrome in a 6-year-old female with aphakia. The syndrome is characterized by a bird-like face, dental abnormalities, hypotrichosis, atrophy of the skin, bilateral microphthalmia, and proportionate dwarfism. A brief review of the literature was conducted.
Article
Purpose: To report new aspects of the phenotype including Retinal dystrophy and surgical challenges in Hallermann-Streiff Francois syndrome (HSFS). Methods: Detailed phenotype of a female with HSFS was evaluated including skeletal changes, comprehensive eye examination, detailed ocular biometry, electroretinography and macular Ocular coherence tomography. Surgical notes of lid surgery for entropion were reviewed. Genetic screening was also done. Results: Unique Ocular biometry with electroretinography changes, macular folds and fundus changes suggestive of an unreported Retinal dystrophy in a typical patient with HSFS were noted. Surgery was challenging both due to difficulty in endotracheal intubation anaesthesia because of the dento-facial abnormalities and the skin fragility. Conclusion: This report provides additional information especially pigmentary retinal dystrophy, macular folds and electroretinography in HSFS. The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos. The surgical difficulties and outcomes of the rarely encountered adnexal abnormalities emphasize the need for a multi disciplinary approach for appropriate management.
Article
Tay, C. H., Rajagopalan, K., McEvoy-Bowe, E., Tock, E. P. C. and Da Costa, J. L. (Departments of Medicine, Biochemistry and Pathology, University of Singapore, Singapore, and the Skin Clinic, General Hospital, Johore Bahru, West Malaysia). A recessive disorder with growth and mental retardation, peculiar facies, abnormal pigmentation, hepatic cirrhosis and aminoaciduria. Acta Paediatr Scand, 63: 777, 1974.—Two Indian teenage sisters from West Malaysia were recently found to have a previously undescribed syndrome consisting of (1) growth retardation and hypogonad-ism, (2) mental deficiency, (3) peculiar fades consisting of microcephely, triangular shaped face, prominent eyes, hypoplastic alae nasi, small ‘pinched’ nose., tiny mouth and large, pegged-shaped incisors, (4) abnormal pigmentations such as cafäau-lait spots, multiple lentigines, peripheral vitiligo and premature canities, (5) abnormal limbs consisting of trident hands, hypoplastic transverse palmar creases, large big toes and short, stubbed small toes, (6) liver involvement with fatty infiltration and hepatic cirrhosis with hypersplenism, (7) raised serum globulins and serum immunoglobulins, and (8) hyperaminoaciduria mainly of taurine, β-aminoisobutyric acid and glycine. This syndrome is probably due to a recessive autosomal trait. The relationship of this to other similar conditions, especially the ‘Bird-Headed Dwarfism’ is briefly discussed.
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We describe 3 young children with Hallermann–Streiff syndrome, 2 with typical manifestations and 1 with the facial changes without the eye abnormalities but with a cleft palate and with complete syndactyly of fingers IV and V. The latter case represents overlap of the Hallermann–Streiff syndrome and oculodentodigital dysplasia. “Dwarfism” as a possible clinical risk marker of mental retardation is discussed. As cause, a mendelian autosomal dominant mutation seems most probable.
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A 35-month-old black boy with Hallermann–Streiff syndrome (HSS) was evaluated for anterior hypopituitarism when he presented with ketotic hypoglycemia, microgenitalia, and short stature. Endocrine evaluation showed a low T4 and TSH levels, suggesting hypothalamic hypothyroidism; this was confirmed by TRH stimulation. Metyrapone test confirmed ACTH deficiency as a contributing factor to the ketotic hypoglycemia. A superagonist GnRH test suggested hypothalamic GnRH deficiency. Growth hormone provocative testing conclusively demonstrated complete growth hormone deficiency. MRI investigation of the brain suggested hypopituitarism. Although facial findings were not completely classical of the HSS, we suggest these may be some what altered due to his racial background. We recommend endocrine evaluation of HSS patients with manifestations suggesting hypopituitarism since treatment of this condition will improve the quality of life of these patients.
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We report the case of a patient with Hallermann-Streiff-François syndrome, with typical presentation of white bilateral cataract. The surgical treatment showed morphological retinal abnormalities, which resulted in an exudative retinal detachment. This case underscores the importance of paying special attention during surgical treatment of cataract in this type of patient. Copyright © 2011. Published by Elsevier Masson SAS.
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Intraocular pressure change has been found concurrent with many orbital pathologies, particularly those involving proptosis. The objective of this review is to offer an inclusive classification of orbital disease-related intraocular pressure change, not only for oculoplastics and glaucoma specialists, but also for general ophthalmologists. Various orbital conditions associated with increased intraocular pressure and glaucoma are comprehensively summarized, and pathophysiology, clinical manifestations, and treatment options of these diseases are discussed. Graves disease, arterio-venous shunts, trauma, and orbital neoplasia, and other common conditions are discussed in detail; less frequent syndromes such as orbitocraniofacial deformities, phakomatoses, and mucopolysaccharidoses are included for the sake of comprehensiveness, but discussed less extensively.
Article
Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by significant craniofacial findings. Dyscephaly, microphthalmia, cataracts, hypotrichosis, cutaneous atrophy, thin pinched nose, and a typical bird-like face are the main features of the syndrome. Additional features of the syndrome include dental anomalies, micrognathia, skeletal defects, and short stature. What follows is a case report of a 10-year-old girl with HSS with special consideration on orodental findings. Clinical, radiographic, and cephalometric analysis revealed hypoplasia of the mandible, high arched palate, Class II malocclusion due to mandibular retrognathia, open bite, posterior crossbite, crowding, malformed teeth, and oligodontia. Magnetic resonance images (MRI) of the temporomandibular joints showed abnormal disks flattened with uniform thickness and deformed condyles bilaterally. Also discussed are the features of HSS with the differential diagnosis, and the dental management of the case is described.
Article
In a 43-year-old man dyscephalia, cataracta congenita, and hypotrichosis were the outstanding features. These signs were first described in 1953 by Ullrich and Fremerey-Dohna as a clinical entity. Since 1958 the DCH syndrome was published under the synonyms of “Francois syndrome” and of “Hallermann-Streiff syndrome”. However, as these authors did not add any essential details relevant for the classification of the syndrome we prefer to retain the term “Ullrich-Fremerey-Dohna syndrome”. In our case in addition to the above mentioned and well known manifestations, extrapyramidal hyperkinesia of the choreoanthetotic type and servere mental deficiency accompanied by mild cerebral atrophy (revealed by pneumencephalography) were found.
Article
Ein 25-jhriger Mann mit den typischen Charakteristika des Hallermann-Streiff-Franois-Syndromes wird beschrieben. Er weis auerdem eine centrencephale Epilepsie auf. Es wird eine Systematik der Dyskephalien aufgefhrt. Die okulomandibulre Form wird als wahrscheinlich genetisch bedingt betrachtet. Im besonderen wird auf das Zusammentreffen der okulomandibulren Dyskephalie mit neurologischen Symptomen hingewiesen.
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We report on a white boy with Hallermann-Streiff syndrome (HSS) who also had tracheomalacia. Chronic respiratory insufficiency led to biventricular failure and death at age 6 months. There have been no previously reported cases of Hallermann-Streiff syndrome with documented tracheomalacia. However, there may be cases in which tracheomalacia may have been present, but not diagnosed. The literature contains 6 HSS cases with severe respiratory symptoms. Tracheomalacia should be considered in a patient with HSS who presents with an unusual cry, stridor, choking, or apnea. With the availability of surgery and supportive treatment, early diagnosis of tracheomalacia in these patients may prevent death and secondary neurologic insult from acute hypoxia.
Article
Hallermann-Streiff syndrome (HSS) is a rare disorder with an associated constellation of radiological findings that may aid in the diagnosis of affected individuals. We reviewed the skeletal surveys of 5 affected individuals and noted some characteristic and constant findings. Radiological findings can include a large, poorly ossified skull with decreased ossification in the sutural areas. There was an increase in the number of Wormian bones. Severe mid-facial hypoplasia was present along with a prominent nasal bone. The skull films also showed an abnormally obtuse or nearly straight gonial angle. The teeth appeared small. The long bones were thin and gracile in appearance and often showed poor demarcation of the cortex from the medullary portion. Abnormal bowing of the radius and ulna was seen neonatally in 2 cases. There was widening at the metaphyseal ends of the long bones. The ribs were thin, but normal in length. The vertebral bodies were noted to be small and 3 cases had platyspondyly. There was a decreased number of sternal ossification enters. The metacarpals were also thin and gracile in appearance with metaphyseal widening. We conclude that these characteristic radiological findings in the newborn with HSS can aid in the diagnosis, and a skeletal survey in suspected individuals may be valuable in confirming the diagnosis.
Article
The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and proportionate short stature. Cause is unknown; sporadic occurrence is the rule. Data presented in this review include the characteristics of pregnancy, growth and development, principal manifestations, radiographic and ophthalmological characteristics, and the results of cephalometric study. Potential complications in the syndrome are related to the narrow upper airway associated with the craniofacial configuration. Severe complications may include early pulmonary infection, respiratory embarrassment, obstructive sleep apnea, and anesthetic risk. Topics for future study are suggested.
Article
A case is reported of a 5-month-old girl with Hallermann-Streiff syndrome who was evaluated for possible premature closure of the cranial sutures. Skull radiographs revealed numerous Wormian bones along sutures in the parietal skull bilaterally. Hallermann-Streiff syndrome is added to the list of diseases in which extensive Wormian bones can appear.
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A mentally retarded 11 yr old girl with features of the Hallerman Streiff syndrome is described. A review of the literature has been made to assess the evidence for a genetic factor in aetiology. An increase in paternal age at the birth of affected children affords circumstantial evidence of the presence of fresh mutation.
Article
Two cases of Hallermann-Streiff syndrome are reported and the literature is reviewed. The most characteristic feature is the peculiar bird-like face, due to abnormalities of the skull and facial bones, associated with cataracts. This syndrome is considered to be the result of some intra-uterine accident in the early stage of fetal growth. Syndrome de Hallermann-Streiff Deux cas de syndrome de Hallermann-Streiff sont décrits et une analyse de la littérature est faite à cette occasion. Le signe le plus caractéristique est la figure à type d'oiseau, liée aux anomalies du crâne et des os de la face, associées à une cataracte. Ce syndrome parait être le résultat d'accidents intra-utérins dans la première phase du développement fetal. Das Hallermann-Streiff Syndrom Es wird über zwei Fälle von Hallermann-Streiff Syndrom berichtet und eine Übersicht über die Literatur gegeben. Besonders charakteristisch ist das eigenartige vogelähnliche Gesicht, verursacht durch Fehlbildungen des Schädels und der Gesichtsknochen, und Katarakte. Dieses Syndrom wird als Ergebnis einer intrauterinen Schädigung im Frühstadium der fetalen Entwicklung betrachtet. Sindrome de Hallermann-Streiff Se presentan dos casos de síndrome de Hallermann-Streiff y se revisa la literatura al respecto. La caracteristica más sobresaliente es el aspecto de pájaro de la facies, debido a anormalidades del cráneo y de los huesos de la cara, y las cataratas. Se considera que el síndrome es el resultado de algún accidente intrauterine en el estadio precoz del desarrollo fetal.
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Two examples are described of a syndrome characterized by dyscephaly with "bird face", dental anomalies, dwarfism, hypotrichosis, microphthalmos, and congenital cataract.
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Oculomandibulodyscephaly (OMD) is characterized by anomalies of skull, mandible, skin and eyes and also by a proportionate nanism. Dental abnormalities are often observed but poorly defined. Examination of a 2-month-old infant that suffered from OMD, having died from an unrelated cause revealed premature eruption of several deciduous teeth, crowding of unerupted deciduous teeth and agenesis of all permanent teeth excepting the first permanent molars.
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A family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other aspects (sensorineural hearing loss in the male, syndactyly in the female).
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This is a survey of the genetics of microphthalmos and the heritable syndromes in which microphthalmos occurs. New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal dominant microphthalmos, microcephaly, lacunar retinal atrophy syndrome, the autosomal recessive anophthalmos-microphthalmos-coloboma syndrome, the autosomal recessive syndrome with anophthalmos or microphthalmos and genital malformations, and the autosomal recessive syndrome with microphthalmos, microcephaly and retinal falciform folds. Nanophthalmos is described as a poorly defined phenotype and rejected as a genotype. Several other genetic entities with microphthalmos are reviewed and recent descriptions are surveyed.
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Key wordsairway management-difficult intubation-Hallermann-Streiff syndrome
Article
Hallermann-Streiff Syndrome is a rare genetic disorder that is characterized primarily by head and face abnormalities. Patients show bird-like facies, dental abnormalities, and hypotrichosis with various ophthalmic abnormalities. We report here a 26-year-old woman with Hallermann-Streiff Syndrome and review the literature.
Article
Hallermann-Streiff syndrome is a rare clinical entity with unknown etiology characterized by a birdlike face, microphthalmia, a beaked nose, hypotrichosis, and proportional small stature. We present a 4-year-old boy in whom magnetic resonance imaging showed complete agenesis of the corpus callosum, which has not been presented in the literature.
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Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder characterized by developmental anomalies of the face, the eyes, the limbs and the teeth. Patients with ODDD usually present with complete syndactyly of the fourth and fifth fingers (type III syndactyly), ocular changes, abnormalities of primary and permanent dentition and specific craniofacial malformations. Mutations in GJA1, a gene that encodes the gap junction protein connexin 43, are responsible for ODDD. Gap junctions are assemblies of intercellular channels that allow exchange of various ions and signaling molecules between cells. In this way, gap junctions play an important regulatory role in a variety of physiologic and developmental processes. We identified three novel and one previously described GJA1 mutation in two large ODDD families and two sporadic ODDD cases.
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Microphthalmos is a rare condition that is often associated with several other ocular abnormalities. Given the considerable differences between microphthalmic and anatomically normal eyes, cataract surgery is technically demanding in these patients, and special attention must be given to adequate preoperative planning of these procedures. Furthermore, the unique nature of these surgeries creates a particular subset of intraoperative and postoperative complications. However, with the advent of piggyback intraocular lens placement, the visual outcomes of cataract surgery in small adult eyes have improved considerably over the past 20 years. This review discusses the nature of the microphthalmic eye, and addresses proper pre-, intra-, and postoperative care of the microphthalmic patient.
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To report two cases of Hallermann-Streiff syndrome with exudative retinal detachment after cataract surgery. Case report. Four eyes of two patients with Hallermann-Streiff syndrome developed exudative retinal detachments after lensectomy and anterior vitrectomy at 2 and 4 months of age. Both patients had extreme microphthalmia. The exudative retinal detachment regressed spontaneously in three of the four eyes; however, one eye required subscleral sclerectomy. In one patient, the best-corrected visual acuity was 20/200 at 3 years of age; the other patient had good fixation and following behavior in each eye at 1 year of age. Early surgery to treat congenital cataracts in extremely microphthalmic eyes associated with the Hallermann-Streiff syndrome may induce exudative retinal detachment. However, the retinal detachments tend to regress and may not cause severe visual impairment.
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